A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14458644



Internal ID22212582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:49856626..49856722hg38UCSC Ensembl
chr22:50250274..50250370hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg3897
hg1997
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3296367
Supporting Variants
SamplesHG00733
Known GenesZBED4
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14458644
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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